regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATG16L1_chr2_233246673_233300669 | 233247566 | TGGTTCAG others(8): Show |
T | upstream_gene_variant | MODIFIER | NA19089.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0249 | 1 | 354 | 0.0028 | -15 | c.-42 others(26): Show |
ATG16L1 | ENSG00000085978.22 | transcript | ENST00000392017.9 | protein_coding | 4106 | chr2 | TogoVar | ||||||
ATG2B_chr14_96274195_96368341 | 96314670 | CTGTTTTG others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(297): Show |
a0001a0002a0005others(20): Show | a0001c0002a0001c0003a0001c0005others(32): Show | a0001c0002t0001a0001c0002t0026a0001c0002t0051others(80): Show | a0001c0002t0001g0011a0001c0002t0001g0012a0001c0002t0001g0258others(285): Show | 300 | 356 | 0.8427 | -15 | c.364 others(32): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 23/41 | chr14 | TogoVar | ||||||
ATG3_chr3_112527510_112566962 | 112536920 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00735.hp1 HG01081.hp2 others(63): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0008a0001c0002t0001g0011others(19): Show | 66 | 376 | 0.1755 | -15 | c.667 others(30): Show |
ATG3 | ENSG00000144848.11 | transcript | ENST00000283290.10 | protein_coding | 9/11 | chr3 | TogoVar | ||||||
ATG4C_chr1_62779132_62870516 | 62869538 | AGTGCATC others(8): Show |
A | downstream_gene_variant | MODIFIER | HG01255.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0301 | 1 | 322 | 0.0031 | -15 | c.*53 others(26): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 4023 | chr1 | TogoVar | ||||||
ATG4D_chr19_10538904_10558418 | 10548003 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02071.hp2 NA18939.hp1 NA18940.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0120a0001c0001t0001g0121others(2): Show | 7 | 406 | 0.0172 | -15 | c.835 others(30): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11395939 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 | 1 | 292 | 0.0034 | -15 | c.195 others(36): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11442739 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 292 | 0.0034 | -15 | c.207 others(36): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATIC_chr2_215307059_215354764 | 215331718 | TTTCTGTG others(8): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0102a0001c0001t0004g0050a0001c0001t0004g0051others(1): Show | 4 | 382 | 0.0105 | -15 | c.689 others(30): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATL2_chr2_38288954_38382273 | 38337486 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01943.hp1 | a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0096 | 1 | 236 | 0.0042 | -15 | c.363 others(32): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38370448 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG02109.hp2 HG03098.hp1 others(1): Show |
a0001a0003 | a0001c0003a0003c0004a0003c0005 | a0001c0003t0003a0001c0003t0016a0003c0004t0003others(1): Show | a0001c0003t0003g0130a0001c0003t0016g0007a0003c0004t0003g0043others(1): Show | 4 | 236 | 0.0170 | -15 | c.118 others(32): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38376634 | GCTCCCCG others(8): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0154 | 1 | 236 | 0.0042 | -15 | c.118 others(30): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ATN1_chr12_6922959_6947321 | 6936728 | ACAGCAGC others(8): Show |
A | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00323.hp2 HG00423.hp2 others(47): Show |
a0002a0016 | a0002c0002a0002c0028a0002c0045others(2): Show | a0002c0002t0001a0002c0028t0001a0002c0045t0001others(2): Show | a0002c0002t0001g0001a0002c0002t0001g0013a0002c0002t0001g0015others(18): Show | 50 | 414 | 0.1208 | -15 | c.149 others(24): Show |
p.Gln others(13): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2082/4702 | 1494/3573 | 498/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
ATOSA_chr15_52576321_52684388 | 52597165 | GTTCTATT others(8): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG02886.hp2 HG02922.hp2 others(2): Show |
a0003a0012 | a0003c0004a0012c0021 | a0003c0004t0002a0012c0021t0002 | a0003c0004t0002g0022a0003c0004t0002g0076a0003c0004t0002g0082others(2): Show | 5 | 362 | 0.0138 | -15 | c.264 others(34): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 9/12 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25841657 | CTCACTAT others(8): Show |
C | intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0292 | 1 | 300 | 0.0033 | -15 | c.449 others(34): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25847609 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 300 | 0.0033 | -15 | c.449 others(34): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160755835 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01123.hp2 HG01496.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0010others(2): Show | a0001c0001t0001g0038a0001c0001t0001g0052a0001c0001t0001g0064others(16): Show | 19 | 236 | 0.0805 | -15 | c.-33 others(36): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160755837 | AAATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01069.hp2 others(20): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0138others(20): Show | 23 | 236 | 0.0975 | -15 | c.-33 others(36): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160755839 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02083.hp2 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0159a0001c0001t0003g0102 | 2 | 236 | 0.0085 | -15 | c.-33 others(36): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160823021 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 236 | 0.0042 | -15 | c.-57 others(36): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112803820 | TCTCCTTC others(8): Show |
T | intron_variant | MODIFIER | HG02132.hp2 | a0003 | a0003c0047 | a0003c0047t0001 | a0003c0047t0001g0038 | 1 | 254 | 0.0039 | -15 | c.163 others(32): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11B_chr3_182788504_182926629 | 182844991 | TTTATTTT others(8): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0260 | 1 | 324 | 0.0031 | -15 | c.705 others(30): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP11B_chr3_182788504_182926629 | 182895112 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0274 | 1 | 324 | 0.0031 | -15 | c.298 others(34): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP11C_chrX_139721348_139938053 | 139742873 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 234 | 0.0043 | -15 | c.303 others(32): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 26/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139742875 | AAATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01258.hp1 HG02027.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091a0001c0001t0001g0092a0001c0001t0001g0116others(6): Show | 9 | 234 | 0.0385 | -15 | c.303 others(32): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 26/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139742877 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00597.hp1 others(74): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(12): Show | a0001c0001t0001g0064a0001c0001t0001g0065a0001c0001t0001g0066others(74): Show | 77 | 234 | 0.3291 | -15 | c.303 others(32): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 26/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139852452 | CGGGGGGG others(8): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG01258.hp1 HG01891.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0032 | a0001c0001t0001g0093a0001c0001t0001g0124a0001c0001t0001g0127others(4): Show | 7 | 234 | 0.0299 | -15 | c.28- others(32): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP13A1_chr19_19640198_19668676 | 19666607 | GTTTTTTT others(8): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01978.hp1 others(4): Show |
a0001a0007 | a0001c0001a0007c0013 | a0001c0001t0001a0001c0001t0003a0007c0013t0003 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0038others(3): Show | 7 | 380 | 0.0184 | -15 | c.-29 others(26): Show |
ATP13A1 | ENSG00000105726.17 | transcript | ENST00000357324.11 | protein_coding | 2932 | chr19 | TogoVar | ||||||
ATP13A2_chr1_16980958_17016928 | 16988615 | TATTATTA others(8): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0036 | 1 | 366 | 0.0027 | -15 | c.261 others(32): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 23/28 | chr1 | TogoVar | ||||||
ATP13A2_chr1_16980958_17016928 | 16999833 | GGAGGCTG others(8): Show |
G | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0077 | 1 | 366 | 0.0027 | -15 | c.103 others(32): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 11/28 | chr1 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193418121 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG01081.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0004t0008a0002c0003t0001others(2): Show | a0001c0001t0001g0169a0001c0001t0001g0225a0001c0001t0001g0243others(4): Show | 7 | 302 | 0.0232 | -15 | c.284 others(34): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 25/29 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193546009 | GTGTGTGT others(8): Show |
G | intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0284 | 1 | 302 | 0.0033 | -15 | c.60+ others(30): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
ATP1A1_chr1_116368244_116409774 | 116386126 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA19005.hp1 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128a0001c0001t0001g0168 | 2 | 336 | 0.0060 | -15 | c.184 others(32): Show |
ATP1A1 | ENSG00000163399.16 | transcript | ENST00000295598.10 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP1A4_chr1_160146603_160191980 | 160180694 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01517.hp1 HG02056.hp1 others(6): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(5): Show | a0001c0001t0001g0056a0001c0001t0003g0391a0001c0003t0001g0045others(6): Show | 9 | 418 | 0.0215 | -15 | c.273 others(32): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP1B2_chr17_7645926_7662770 | 7660810 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01167.hp1 HG02055.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0001g0001a0001c0001t0003g0002a0001c0001t0007g0003others(8): Show | 19 | 440 | 0.0432 | -15 | c.*49 others(26): Show |
ATP1B2 | ENSG00000129244.9 | transcript | ENST00000250111.9 | protein_coding | 3041 | chr17 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141874779 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0024a0001c0001t0001g0043a0001c0001t0001g0045others(53): Show | 56 | 408 | 0.1373 | -15 | c.-20 others(26): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1863 | chr3 | TogoVar | ||||||
ATP2A2_chr12_110276247_110356093 | 110297892 | GGTGTGCC others(8): Show |
G | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 228 | 0.0044 | -15 | c.463 others(32): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | chr12 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10321729 | TATCTATC others(8): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG00741.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0013others(7): Show | a0001c0001t0001g0079a0001c0001t0001g0158a0001c0002t0001g0086others(10): Show | 13 | 290 | 0.0448 | -15 | c.*70 others(26): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 2293 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10356074 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 |
a0001 | a0001c0002a0001c0035 | a0001c0002t0004a0001c0035t0006 | a0001c0002t0004g0075a0001c0035t0006g0136 | 2 | 290 | 0.0069 | -15 | c.213 others(34): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 14/22 | chr3 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203687994 | GATTATTA others(8): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG03098.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0023 | a0001c0001t0002a0001c0001t0022a0001c0023t0060 | a0001c0001t0002g0153a0001c0001t0022g0136a0001c0001t0022g0150others(1): Show | 4 | 318 | 0.0126 | -15 | c.193 others(32): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203704467 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0005 | a0002c0005t0051 | a0002c0005t0051g0178 | 1 | 318 | 0.0031 | -15 | c.109 others(32): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2C1_chr3_130889084_131008150 | 130902284 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01175.hp1 HG02027.hp2 others(21): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(2): Show | a0001c0001t0001g0094a0001c0001t0001g0095a0001c0001t0001g0141others(21): Show | 24 | 382 | 0.0628 | -15 | c.6+7 others(28): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2C1_chr3_130889084_131008150 | 130903700 | CCCTTTCC others(8): Show |
C | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0315 | 1 | 382 | 0.0026 | -15 | c.6+8 others(28): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2C1_chr3_130889084_131008150 | 130986864 | ATTAGTTT others(8): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02896.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0014a0001c0001t0001g0077a0001c0001t0009g0076 | 3 | 382 | 0.0079 | -15 | c.184 others(34): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2C1_chr3_130889084_131008150 | 130986918 | GTTTAGTT others(8): Show |
G | intron_variant | MODIFIER | HG06807.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084a0001c0001t0001g0108 | 2 | 382 | 0.0052 | -15 | c.184 others(34): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2C1_chr3_130889084_131008150 | 130989245 | CTCAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268a0001c0001t0001g0269a0001c0001t0001g0270 | 3 | 382 | 0.0079 | -15 | c.184 others(34): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 20/27 | chr3 | TogoVar | ||||||
ATP2C2_chr16_84363538_84469187 | 84379152 | CCCCTCCC others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG02165.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0426a0001c0003t0001g0289 | 2 | 432 | 0.0046 | -15 | c.99+ others(32): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP5F1A_chr18_46075248_46103296 | 46092180 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0226 | 1 | 390 | 0.0026 | -15 | c.140 others(30): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
ATP5ME_chr4_667436_679276 | 669207 | TCCCGCTA others(8): Show |
T | downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 394 | 0.0025 | -15 | c.*32 others(26): Show |
ATP5ME | ENSG00000169020.10 | transcript | ENST00000304312.5 | protein_coding | 3228 | chr4 | TogoVar | ||||||
ATP5MF_chr7_99453195_99471167 | 99466717 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 346 | 0.0029 | -15 | c.-59 others(24): Show |
ATP5MF | ENSG00000241468.8 | transcript | ENST00000292475.8 | protein_coding | 551 | chr7 | TogoVar | ||||||
ATP5PF_chr21_25719500_25739904 | 25730736 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0025others(12): Show | 33 | 416 | 0.0793 | -15 | c.-7- others(28): Show |
ATP5PF | ENSG00000154723.13 | transcript | ENST00000284971.8 | protein_coding | 1/3 | chr21 | TogoVar |